L50L (p.Leu50Leu) variant of CYBB (NADPH oxidase 2)
L50L (p.Leu50Leu) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD X-37783498-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available